Table 4. [Genes of Interest in the...]. - GeneReviews®

Gene	DiffDx Disorder	MOI	Features of DiffDx Disorder
ANGPTL3	Familial combined hypolipidemia	AR	Low plasma levels of LDL cholesterol	Very low plasma triglyceride & HDL cholesterol levels
MTTP	Abetalipoproteinemia	AR	Clinical features may resemble those of persons w/biallelic APOB-FHBL.	Mean age of diagnosis 3.8 yrs (vs persons w/biallelic APOB-FHBL: mean age of diagnosis 21 yrs)
PCSK9	Hypocholesterolemia w/reduced LDL cholesterol (OMIM 607786)	AD	Low plasma levels of LDL cholesterol	Milder effect on LDL-cholesterol lowering; not assoc w/hepatic steatosis
SAR1B	Chylomicron retention disease	AR	May be clinically similar to biallelic APOB-FHBL (failure to thrive, steatorrhea)	Chylomicrons are absent; LDL cholesterol levels are low but not absent.

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Gene	DiffDx Disorder	MOI	Features of DiffDx Disorder
Gene	DiffDx Disorder	MOI	Overlapping w/biallelic APOB-FHBL	Distinguishing from biallelic APOB-FHBL
ANGPTL3	Familial combined hypolipidemia	AR	Low plasma levels of LDL cholesterol	Very low plasma triglyceride & HDL cholesterol levels
MTTP	Abetalipoproteinemia	AR	Clinical features may resemble those of persons w/biallelic APOB-FHBL.	Mean age of diagnosis 3.8 yrs (vs persons w/biallelic APOB-FHBL: mean age of diagnosis 21 yrs)
PCSK9	Hypocholesterolemia w/reduced LDL cholesterol (OMIM 607786)	AD	Low plasma levels of LDL cholesterol	Milder effect on LDL-cholesterol lowering; not assoc w/hepatic steatosis
SAR1B	Chylomicron retention disease	AR	May be clinically similar to biallelic APOB-FHBL (failure to thrive, steatorrhea)	Chylomicrons are absent; LDL cholesterol levels are low but not absent.